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1.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Article
in English
| MEDLINE | ID: mdl-38529886
2.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35141892
3.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35833929
4.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34164801
5.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37658852
6.
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Eur J Hum Genet
; 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38802530
7.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36747006
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